Results 91 to 100 of about 315,161 (293)

Marital Status and Unobserved Heterogeneity - Do twins suggest a genetic inheritance? [PDF]

The purpose of this study is to reveal the importance of unobserved heterogeneity on marital status. The results for monozygotic (identical) and dizygotic twins indicate an important genetic component in marital status.
Nilsson, William
core   +1 more source

Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes [PDF]

, 2003
The presence of a genetic component in longevity is well known. Here, the association of a mtDNA mutation with a prolonged life span in humans was investigated.
Asin-Cayuela, Jordi, Attardi, Giuseppe, Bonafé, Massimiliano, De Benedictis, Giovanna, Fish, Jennifer, Franceschi, Claudio, Michikawa, Yuichi, Olivieri, Fabiola, Passarino, Giuseppe, Zhang, Jin   +9 more
core  

Does the highly prevalent East Asian ALDH2 null variant magnify adverse effects of prenatal alcohol exposure on child development? A commentary

Alcohol, Clinical and Experimental Research, EarlyView.
Chloe Slaney, George Davey Smith
wiley   +1 more source

Neuroichthyosis With a De Novo Variant c.494C>T in ELOVL1 and Severe Pruritus Relieved by Dupilumab

Pediatric Dermatology, EarlyView.
ABSTRACT We report a patient with neuroichthyosis with an ELOVL1 variant associated with severe pruritus who responded well to dupilumab therapy. Our case is the third known patient reported with this de novo heterozygous dominant variant. The feature of severe progressive pruritus greatly impairing quality of life is unique among these reports.
Danielle Marcoux, Sophie‐Anne Savard, Victor Kokta, Elsa Rossignol, Luis H. Ospina   +4 more
wiley   +1 more source

Estimation of the limits of heritability of traits by comparison of monozygotic and dizygotic twins.

Proceedings of the National Academy of Sciences of the United States of America, 1967
This paper has three aims: (1) to present a new formula for extracting heritability estimates from twin data; (2) to show the results of the application of the formula to data from past studies of the heritability of intelligence, scholastic achievement,
A. Jensen
semanticscholar   +1 more source

An effective encoding of human medical conditions in disease space provides a versatile framework for deciphering disease associations

Quantitative Biology, Volume 13, Issue 3, September 2025.
Abstract It is challenging to identify comorbidity patterns and mechanistically investigate disease associations based on health‐related data that are often sparse, large‐scale, and multimodal. Adopting a systems biology approach, embedding‐based algorithms provide a new perspective to examine diseases under a unified framework by mapping diseases into
Tianxin Xu, Yu Li, Xin Gao, Andrey Rzhetsky, Gengjie Jia   +4 more
wiley   +1 more source

The Vaginal Microbiome: Disease, Genetics and the Environment [PDF]

, 2010
The vagina is an interactive interface between the host and the environment. Its surface is covered by a protective epithelium colonized by bacteria and other microorganisms.
Bin Xie, Christopher J. Friedline, Cynthia N. Cornelissen, Elizabeth C. Prom-Wormley, Federico A. Puma, Gregory A. Buck, Huan Mo, James P. Brooks, Jennifer M. Fettweis, Jerome L. Strauss, Joao P. Alves, Joseph F. Borzelleca, Judy L. Silbert, Kimberly K. Jefferson, Lindon J. Eaves, Logan Voegtly, Maria C. Rivera, Mark A. Reimers, Michael D. Harwich, Michael C. Neale, Myrna G. Serrano, Nihar U. Sheth, Philippe Girerd, Seth B. Roberts, Stephanie L. Hendricks, Timothy P. York, Vladimir Lee, Xi Gao, Yuan Gao   +28 more
core   +3 more sources

MTSS2 ‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Beyond the Extra X and Y Chromosome: The Contribution of Familial Risk for Psychopathology to the Neurodevelopmental Phenotype of Children With Sex Chromosome Trisomy

American Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Individuals with an extra X or Y chromosome (sex chromosome trisomy or SCT) have an increased risk for symptoms of psychopathology and neurocognitive dysfunction. In this study, we evaluated the contribution of family history (FH) of neuropsychiatric or neurocognitive disorders to the phenotype of SCT. One hundred and six children with SCT and
Sophie van Rijn, Kimberly Kuiper, Hanna Swaab   +2 more
wiley   +1 more source

THE APPLICATION OF AN INDEX TO DETERMINE GENETIC AND ENVIRONHENTAL CONTRIBUTIONS TO DENTOFACIAL GROWTH IN TWINS AND SIBLINGS [PDF]

, 1970
The method of principal components may be used to reduce a large quantity of data for an individual into a single statistic, a growth index, indicative of overall facial growth, and to make a determination of the relative contribution of each variable ...
Hayes, Richard Charles
core   +1 more source